Paralogue Annotation for RYR1 residue 2545

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2545
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2545

No paralogue variants have been mapped to residue 2545 for RYR1.



RYR1QDFLLHVLDVGFLPDMRAAASLDTATFSTT>E<MALALNRYLCLAVLPLITKCAPLFAGTEHR2575
RYR2QDFLLHLLEVGFLPDLRAAASLDTAALSAT>D<MALALNRYLCTAVLPLLTRCAPLFAGTEHH2541
RYR3QTFLLHLLEVGFLPDLRASASLDTVSLSTT>E<AALALNRYICSAVLPLLTRCAPLFAGTEHC2438
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2545Dc.7635G>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918
Other Myopathy Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 104(6):1146-54. 16732084
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.E2545Qc.7633G>C Putative BenignSIFT:
Polyphen:
p.E2545Kc.7633G>A Putative BenignSIFT:
Polyphen: